双边感应神经神经听力损失中的遗传变异谱
Amanat Ali1, Mohammed Tabouni1, Praseetha Kizhakkedath1
1Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Frontiers in genetics
|February 27, 2024
概括
基因测试确定了MYO15A,SLC26A4和GJB2等基因中的六种不同的致病变体,解释了阿联家庭的双边感应神经听力损失. 这项研究有助于我们更好地理解血缘亲属群体中听力损失遗传学的理解.
科学领域:
- 遗传学 遗传学 是一个
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 基因组医学是基因组医学.
背景情况:
- 听力损失 (HL) 是一种具有不同遗传原因的显著听力损伤,被分类为综合征 (30%) 或非综合征 (70%).
- 150个基因中的1000多个变异与HL有关,但诊断率各不相同,特别是在高血缘关系的人群中.
- 血缘亲属群体为研究衰退形式的听力损失提供了独特的机会.
研究的目的:
- 在阿拉伯联合长国 (阿联) 的家庭中识别与双边神经感官听力损失 (SNHL) 相关的遗传变异.
- 为了研究一个血缘婚姻率高的人群中听力损失的遗传情景.
- 提高听力损失的遗传诊断率,使用全外因子测序 (WES).
主要方法:
- 在阿联,对11个双边感应神经HL家族进行了全外体测序 (WES).
- 分析的重点是识别已知和新基因中的致病性或可能致病性变体.
- 不确定意义的变种 (VUS) 也被目录.
主要成果:
- 在六个探针中建立了分子诊断,确定了MYO15A,SLC26A4和GJB2.2中的六种不同的致病/可能致病变体.
- 在MYO15A (p.Tyr1962Ter*) 中发现了一种新的同卵性无意义变异.
- 总的诊断收益率为54.5%,其中45.5%的患者来自血缘亲属家庭. 最常涉及的基因是SLC26A4和GJB2.
结论:
- 下一代测序 (NGS) 显著有助于诊断听力损伤的临床诊断,通过阐明HL的遗传基础.
- 这些发现扩大了对HL遗传异质性的知识,特别是在以高血缘关系率为特征的阿拉伯人口中.
- 该研究强调了WES在诊断特定人口群体中复杂遗传疾病方面的重要性.
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